Article
SLC4A1 mutations that cause distal renal tubular acidosis alter cytoplasmic pH and cellular autophagy.
eLife - 4 Mar 2026
Essuman Grace, Rizvi Midhat, Almomani Ensaf, Ullah Shahid A K M, Hasib Sarder M A, Chelangarimiyandoab Forough, Mungara Priyanka, Schmitt Manfred J, Hureaux Marguerite, Vargas-Poussou Rosa, Touret Nicolas, Cordat Emmanuelle
Abstract excerpt
Distal renal tubular acidosis (dRTA) is a disorder characterized by the inability of the collecting duct system to secrete acids during metabolic acidosis. The pathophysiology of dominant or recessive SLC4A1 variant-related dRTA has been linked with the mis-trafficking defect of mutant kAE1 protein. However, in vivo studies in kAE1 R607H dRTA mice and humans have revealed a complex pathophysiology implicating a...
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